Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,

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Presentation transcript:

Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE, and BEAT STEINMANN J Bone Joint Surg Am Volume 81(2): February 1, 1999 ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 1 Case 1. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Figs. 2-A through 2-E: Case 2. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 2-B Photograph showing hyperextensibility of the finger joints. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 2-C Lateral radiograph of the knee, showing posterior subluxation of the tibia on the femur. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 2-D Anteroposterior radiograph showing bilateral subluxation of the hip. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 2-E Lateral radiograph of the skull, showing wormian bones (arrow) near the occipital suture, a large open anterior fontanelle, and thickening of the calvaria, which had a pumice-like appearance. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 3 Case 2. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 4 Images showing the nucleotide sequence of normal and mutant alleles obtained by Amplification Refractory Mutation System (ARMS) polymerase chain reaction. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.

Fig. 5 Schematic representations depicting the pathogenesis of type-VIIB Ehlers-Danlos syndrome. CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81: ©1999 by The Journal of Bone and Joint Surgery, Inc.